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https://www.readbyqxmd.com/read/28539665/copy-number-variants-and-candidate-gene-mutations-in-isolated-split-hand-foot-malformation
#1
Tonia C Carter, Robert J Sicko, Denise M Kay, Marilyn L Browne, Paul A Romitti, Zoё L Edmunds, Aiyi Liu, Ruzong Fan, Charlotte M Druschel, Michele Caggana, Lawrence C Brody, James L Mills
Split hand/foot malformation (SHFM) is a congenital limb deficiency with missing or shortened central digits. Some SHFM genes have been identified but the cause of many SHFM cases is unknown. We used single-nucleotide polymorphism (SNP) microarray analysis to detect copy-number variants (CNVs) in 25 SHFM cases without other birth defects from New York State (NYS), prioritized CNVs absent from population CNV databases, and validated these CNVs using quantitative real-time polymerase chain reaction (qPCR). We tested for the validated CNVs in seven cases from Iowa using qPCR, and also sequenced 36 SHFM candidate genes in all the subjects...
May 25, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28525675/acellular-dermal-matrix-and-heel-reconstruction-a-new-prospective
#2
Alessandro Scalise, Matteo Torresetti, Federica Verdini, Marianna Capecci, Elisa Andrenelli, Alessandro Mengarelli, Maria Gabriella Ceravolo, Sandro Fioretti, Giovanni Di Benedetto
BACKGROUND: Heel reconstruction represents a challenge for all plastic surgeons due to the anatomical and functional features of this weight-bearing area. In the last decade a combined use of acellular dermal matrices and skin grafts has been proposed as a reliable and less invasive alternative for complex wound management; nevertheless only a few cases have been reported in the literature. METHODS: We describe the long-term outcome of 2 cases of severe degloving trauma of the plantar region with massive soft tissue defects of the foot, that underwent surgical reconstruction with artificial dermis and skin grafts...
May 19, 2017: Journal of Applied Biomaterials & Functional Materials
https://www.readbyqxmd.com/read/28523427/-total-ankle-arthroplasty-with-simultaneous-subtalar-fusion
#3
J Mainzer, P Rippstein
OBJECTIVE: Pain free weight bearing ability with orthograde hindfoot position and preserved tibiotalar motion. INDICATIONS: Symptomatic arthritis of the ankle and subtalar joint, additional subtalar hindfoot malalignment. CONTRAINDICATIONS: Absolute: acute infection, noncorrectable ligamentous instability or bony defects, restricted perfusion, diabetic foot syndrome. Relative: inability to comply with postoperative partial weight bearing, only moderate symptoms of subtalar arthritis, smoking, intricate soft tissue situation...
May 18, 2017: Operative Orthopädie und Traumatologie
https://www.readbyqxmd.com/read/28512866/medial-sural-artery-perforator-free-flap-for-the-reconstruction-of-leg-foot-and-ankle-defect-an-excellent-option
#4
Jyoshid R Balan
BACKGROUND: The defects over the leg, foot and ankle are best covered with a thin pliable flap. The use of muscle flap for the reconstruction of these defects leaves a grafted, aesthetically inferior result. The medial sural artery perforator (MSAP) free flap gives a thin pliable tissue for the reconstruction with better aesthesis. METHODS: The study design was retrospective case analysis over a period of 2 years. All the patients who underwent flap for leg, foot and ankle defect reconstruction in the form of MSAP free flap were included in the study...
May 16, 2017: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/28507850/distally-based-sural-artery-peroneus-flap-dbspf-for-foot-and-ankle-reconstruction
#5
Ahmed Ali Ebrahiem, Raj Kumar Manas, Gustavo Vinagre
BACKGROUND: Reconstruction of soft-tissue defects in lower third of leg, ankle, and foot has been a challenge and reconstructive surgeons have been trying to innovate different flaps. To solve this issue, we propose a distally based sural artery peroneus flap (DBSPF) in which we include superficial portion of the peroneus brevis muscle and its blood supply with the peroneal artery distally. The aim of this study was to evaluate the functional outcome and its usefulness over conventional distal sural artery flap or other local options available...
April 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28503467/medial-lemniscus-tract-lesion-after-high-voltage-electrical-injury-a-case-report
#6
Chul-Hyun Cho, Dong Gyu Lee
We present the case of a 33-year-old man who experienced a 10,000-V electrical shock when working with electrical wiring. He suffered third-degree burns on his scalp at the right occiput (entry wound) and on his left arm (exit would), and a second-degree burn on his left foot (exit wound). He presented with severe spasticity of both lower extremities, motor weakness with a Medical Research Council grade of 3, and sensory impairments below thoracic level 11 that included an inability to sense light touch and defects in proprioception...
April 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28497002/overlap-between-fibular-aplasia-tibial-campomelia-and-oligosyndactyly-and-fuhrmann-s-syndromes-in-an-egyptian-female-infant
#7
Ebtesam M Abdalla, Ahmed A El-Beheiry
We report a rare congenital limb defect with combined features of both fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) and Fuhrmann's syndromes. A female newborn infant, born to nonconsanguineous Egyptian parents, presented with isolated abnormalities of the lower limbs comprising bilateral shortening and anterior bowing of the lower limbs at the distal third of the tibia and split foot. Radiographic examination revealed complete absence of both fibulae, anterolateral bowing and shortening of the tibia, bowing of the femora, and absence of several metatarsal and phalangeal bones...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28496997/a-new-split-hand-foot-malformation-with-long-bone-deficiency-familial-case
#8
Carmela Fusco, Pasquelena De Nittis, Ali Abdullah Alfaiz, Maria Teresa Pellico, Bartolomeo Augello, Natascia Malerba, Leopoldo Zelante, Alexandre Reymond, Giuseppe Merla
Split hand/foot malformation with long bone deficiency (SHFLD) is a congenital limb anomaly where hands and/or feet cleft and syndactyly are associated with long bone defects, usually involving the tibia. Previously published data reported that 17p13.3 chromosomal duplication, including the BHLHA9 gene, has been associated with the distinct entity, termed SHFLD3 (OMIM 612576), inherited as an autosomal dominant trait. Here, we present a family with three members affected by SHFLD harboring BHLHA9 duplication...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28488153/reconstruction-outcomes-of-oncologic-foot-defect-using-well-contoured-free-perforator-flaps
#9
Kyeong-Tae Lee, Sun-June Park, Goo-Hyun Mun
BACKGROUND: Reconstruction of foot defects following oncologic resection is a crucial element in the treatment of soft tissue malignancy of the foot. OBJECTIVE: The present study aimed to comprehensively evaluate outcomes of oncologic foot reconstruction using free perforator flaps. METHODS: Outcomes of patients with soft tissue malignancy of the foot who underwent reconstruction using a free perforator flap following ablative surgery were reviewed, and perioperative and delayed complications (secondary debulking operation and flap instability) were documented...
May 9, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28483787/a-sting-agonist-given-with-ox40-receptor-and-pd-l1-modulators-primes-immunity-and-reduces-tumor-growth-in-tolerized-mice
#10
Jeremy B Foote, Marleen Kok, James M Leatherman, Todd D Armstrong, Bridget C Marcinkowski, Laureen S Ojalvo, David B Kanne, Elizabeth M Jaffee, Thomas W Dubensky, Leisha A Emens
STING signaling induces interferon-β (IFNβ) production by intratumoral dendritic cells (DCs), driving T-cell priming and recruitment into the tumor microenvironment (TME). We examined to what extent pre-existing antigen tolerance influenced the efficacy of in situ delivery of a potent STING-activating cyclic dinucleotide (CDN), ADU S-100, against established HER-2(+) breast tumors. ADU S-100 induced HER-2-specific CD8(+) T-cell priming and durable tumor clearance in 100% of nontolerant parental FVB/N mice...
May 8, 2017: Cancer Immunology Research
https://www.readbyqxmd.com/read/28476907/congenital-talipes-equinovarus-and-congenital-vertical-talus-secondary-to-sacral-agenesis
#11
Jonathan James Hyett Bray, Sebastien Crosswell, Rick Brown
Sacral agenesis is a rare congenital defect which is associated with foot deformities such as congenital talipes equinovarus (CTEV) and less commonly congenital vertical talus (CVT). We report a 3-year-old Caucasian girl who was born with right CTEV and left CVT secondary to sacral agenesis. Her right foot was managed with a Ponseti casting method at 2 weeks, followed by an Achilles tenotomy at 4 months. The left foot was initially managed with a nocturnal dorsi-flexion splint. Both feet remained resistant and received open foot surgery at 10 months producing plantigrade feet with neutral hindfeet...
May 5, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28442207/tibio-talo-calcaneal-fusion-after-limb-salvage-procedures-a-retrospective-study
#12
Lukas Zak, Gerald E Wozasek
BACKGROUND: The treatment of limb threatening trauma on the distal tibia or hindfoot often results in posttraumatic osteoarthritis requiring tibiotalocalcaneal (TTC) arthrodesis. The purpose of this study was to present a case series of patients undergoing various techniques of joint fusion after bone reconstruction and deformity correction as a salvage procedure. The study should help trauma surgeons making decisions in limb salvage and deformity correction in complex lower leg and foot injuries by presenting options and treatment strategies...
April 15, 2017: Injury
https://www.readbyqxmd.com/read/28407703/determination-of-the-effect-of-diameter-of-the-sac-on-prognosis-in-64-cases-operated-for-meningomyelocele
#13
Metehan Eseoğlu, Ahmet Eroğlu, Serkan Kemer, Mehmet Arslan
OBJECTIVE: To examine the effect of meningomyelocele sac size on prognosis by retrospective review of 64 cases operated for meningomyelocele between January 2009 and December 2012. METHODS: We evaluated newborn babies operated for meningomyelocele by retrospectively reviewing their files for head circumference, location and with of the defect, accompanying anomalies, treatments administered, drugs that mother used during pregnancy. Based on the defect size, 3 patient groups were created as 0-24 cm(2) (group I), 25-39 cm(2) (group II), and 40 cm(2) and above (group III)...
March 2017: Korean Journal of Spine
https://www.readbyqxmd.com/read/28407348/retrospective-evaluation-of-factors-influencing-successful-skin-grafting-for-patients-with-skin-cancer-of-the-foot
#14
Hiroyuki Goto, Shusuke Yoshikawa, Keita Mori, Masaki Otsuka, Toshikazu Omodaka, Kosuke Yoshimi, Yuichi Yoshida, Osamu Yamamoto, Yoshio Kiyohara
Skin grafting is a simple method for reconstruction of a large defect on the foot. Although skin grafting on the foot sometimes fails, it is not clear what factors influence the success rate of skin grafting. We analyzed data for 71 patients with skin cancer of the foot who underwent reconstruction of defects with skin grafting. The factors we evaluated were success rate of skin grafting, weight-bearing or non-weight-bearing area, immediate or delayed reconstruction, and whether a tie-over bolster was used or not...
April 13, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28399642/acute-tears-of-the-tibialis-posterior-tendon-following-ankle-sprain
#15
Lyle T Jackson, Linda J Dunaway, Gregory A Lundeen
BACKGROUND: Traumatic tears of the tibialis posterior (TP) tendon following an ankle sprain are rare. The purpose of this study was to report our case series of TP tendon tears following an ankle sprain. METHODS: Patients with persistent TP tendon pain after an ankle sprain were retrospectively identified over a 4-year period and reviewed. A comparison of magnetic resonance imaging (MRI) interpretations by a radiologist and surgeon was made. Patients failing conservative management underwent operative repair of the TP tendon tear and concomitant pathology...
April 1, 2017: Foot & Ankle International
https://www.readbyqxmd.com/read/28393309/free-non-vascularized-fibular-graft-for-treatment-of-large-bone-defect-around-the-elbow-in-pediatric-patients
#16
Kamolporn Kaewpornsawan, Perajit Eamsobhana
BACKGROUND: Large bone defect is a challenging problem in orthopedics practice. Several methods are available for bridging of these bone defects, including cancellous bone graft, free vascularized fibula graft, and bone transport with external ring fixator. The aim of this study was to describe our experience in nine pediatric cases of free non-vascularized autogenous fibular strut bone graft in which large bone defect and bone loss of >7 cm was caused by open fracture and infective nonunion around the elbow joint...
April 9, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/28376828/all-polyethylene-tibial-components-in-distal-femur-limb-salvage-surgery-a-finite-element-analysis-based-on-promising-clinical-outcomes
#17
Fan Tang, Yong Zhou, Wenli Zhang, Li Min, Rui Shi, Yi Luo, Hong Duan, Chongqi Tu
BACKGROUND: Whether all-polyethylene tibial (APT) components are beneficial to patients who received distal femur limb-salvage surgery lacks high-quality clinical follow-up and mechanical evidence. This study aimed to investigate the biomechanics of the distal femur reconstructed with APT tumor knee prostheses using finite element (FE) analysis based on our previous, promising clinical outcome. METHODS: Three-dimensional FE models that use APT and metal-backed tibial (MBT) prostheses to reconstruct distal femoral bone defects were developed and input into the Abaqus FEA software version 6...
April 4, 2017: Journal of Orthopaedic Surgery and Research
https://www.readbyqxmd.com/read/28362518/role-of-angiography-in-systemic-lupus-erythematosus-induced-choroiditis
#18
Kenneth Rohan Lee, Lai Yin Peng, Tajunisah Begum Iqbal, Visvaraja Subrayan
PURPOSE: To report a case of systemic lupus erythematosus-induced choroidal vasculitis. METHODS: A 34-year-old woman with a long-standing history of systemic lupus erythematosus had a sudden painless loss of vision in the right eye over 12 hours. Ocular examination revealed a visual acuity of counting fingers of 1 foot on the right eye and 20/20 on the left. There was a relative afferent pupillary defect on the right side with a pink, distinct optic disk margin...
March 31, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28345420/peroneal-perforator-pedicle-propeller-flap-for-lower-leg-soft-tissue-defect-reconstruction-clinical-applications-and-treatment-of-venous-congestion
#19
Lifeng Shen, Yiyang Liu, Chun Zhang, Qiaofeng Guo, Wenhua Huang, Kelvin Kian Loong Wong, Shimin Chang
Objective To describe the characteristics of the perforator vessel in the peroneal artery of the lower leg and to explore the use of perforator pedicle propeller flaps to repair soft tissue defects in the lower leg, heel and foot. Methods This retrospective study enrolled patients with soft tissue defects of the distal lower leg, heel and foot who underwent surgery using peroneal perforator-based propeller flaps. The peroneal artery perforators were identified preoperatively by colour duplex Doppler ultrasound...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28340663/compound-or-specially-designed-flaps-in-the-lower-extremities
#20
REVIEW
Bruno Battiston, Davide Ciclamini, Jin Bo Tang
Novel and combined tissue transfers from the lower extremity provide new tools to combat soft tissue defects of the hand, foot, and ankle, or fracture nonunion. Flaps can be designed for special purposes, such as providing a gliding bed for a grafted or repaired tendon or for thumb or finger reconstruction. Propeller flaps can cover soft tissue defects of the leg and foot. In repairing severe bone and soft tissue defects of the lower extremity, combined approaches, including external fixators, one-stage vascularized bone grafting, and skin or muscle flap coverage of the traumatized leg and foot, have become popular...
April 2017: Clinics in Plastic Surgery
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